2-71349691-A-G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_014497.5(ZNF638):āc.737A>Gā(p.Gln246Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000508 in 1,614,112 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_014497.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF638 | NM_014497.5 | c.737A>G | p.Gln246Arg | missense_variant | 2/28 | ENST00000264447.9 | |
ZNF638 | NM_001014972.3 | c.737A>G | p.Gln246Arg | missense_variant | 2/28 | ||
ZNF638 | NM_001252612.2 | c.737A>G | p.Gln246Arg | missense_variant | 2/28 | ||
ZNF638 | NM_001252613.2 | c.737A>G | p.Gln246Arg | missense_variant | 2/28 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF638 | ENST00000264447.9 | c.737A>G | p.Gln246Arg | missense_variant | 2/28 | 1 | NM_014497.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000591 AC: 9AN: 152224Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251320Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135824
GnomAD4 exome AF: 0.0000499 AC: 73AN: 1461888Hom.: 0 Cov.: 32 AF XY: 0.0000495 AC XY: 36AN XY: 727244
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152224Hom.: 0 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74380
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at